Variant report

Variant	esv3371560
Chromosome Location	chr4:175376377-175377425
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562099218	chr4:175376400-175376401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs17060514	chr4:175376421-175376422	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs375561340	chr4:175376423-175376424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2555622	chr4:175376440-175376441	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs2612663	chr4:175376524-175376525	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs192809019	chr4:175376544-175376545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560621084	chr4:175376558-175376559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145879907	chr4:175376654-175376655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10551670	chr4:175376672-175376673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10641351	chr4:175376748-175376749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4048309	chr4:175376749-175376750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548688780	chr4:175376767-175376768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568482193	chr4:175376841-175376842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148819362	chr4:175376852-175376853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2244288	chr4:175376855-175376856	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551018873	chr4:175376872-175376873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2244289	chr4:175376881-175376882	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs116836593	chr4:175376891-175376892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557749035	chr4:175376930-175376931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115885527	chr4:175376932-175376933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573837956	chr4:175376961-175376962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376911480	chr4:175376990-175376991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536512198	chr4:175377003-175377004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142530784	chr4:175377040-175377041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116929149	chr4:175377056-175377057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147587276	chr4:175377096-175377097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113069264	chr4:175377108-175377109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558274701	chr4:175377114-175377115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184260378	chr4:175377123-175377124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540451203	chr4:175377127-175377128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs367546406	chr4:175377164-175377165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2555623	chr4:175377225-175377226	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs529482248	chr4:175377288-175377289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542888829	chr4:175377296-175377297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76907393	chr4:175377321-175377322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4498112	chr4:175377334-175377335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112550908	chr4:175377392-175377393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Cancer	20164919	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175371000-175378400	Weak transcription	Esophagus	oesophagus
2	chr4:175371800-175382600	Weak transcription	Small Intestine	intestine
3	chr4:175372000-175377200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr4:175374000-175377800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:175374200-175378800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:175374400-175377800	Weak transcription	Stomach Mucosa	stomach
7	chr4:175374600-175382800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:175374800-175377000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr4:175375200-175377000	Weak transcription	Fetal Stomach	stomach
10	chr4:175375800-175376400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr4:175376000-175376600	Enhancers	Fetal Intestine Small	intestine
12	chr4:175376000-175379400	Enhancers	Colon Smooth Muscle	Colon
13	chr4:175376200-175378800	Weak transcription	Pancreas	Pancrea
14	chr4:175376400-175381600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr4:175376600-175381600	Weak transcription	Fetal Intestine Small	intestine
16	chr4:175377000-175378400	Enhancers	Fetal Stomach	stomach
17	chr4:175377000-175379600	Enhancers	Rectal Smooth Muscle	rectum
18	chr4:175377200-175377800	Enhancers	Stomach Smooth Muscle	stomach

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